Canonical Allele Identifier: CA389413784

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269584T>A (hg19) ; chr14:g.33800378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800378T>A , CM000676.2:g.33800378T>A	GRCh38
NC_000014.8:g.34269584T>A , CM000676.1:g.34269584T>A	GRCh37
NC_000014.7:g.33339335T>A	NCBI36
NG_013036.1:g.866126T>A
NG_013036.2:g.866126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2071T>A MANE Select	ENSP00000348460.4:p.Phe691Ile
ENST00000551634.6:c.2080T>A	ENSP00000448373.2:p.Phe694Ile
ENST00000680362.1:c.1971T>A
ENST00000681323.1:c.793+2797T>A
ENST00000346562.6:c.1975T>A	ENSP00000319610.5:p.Phe659Ile
ENST00000356141.8:c.2071T>A	ENSP00000348460.4:p.Phe691Ile
ENST00000357798.9:c.2032T>A	ENSP00000350446.5:p.Phe678Ile
ENST00000548645.5:c.1981T>A	ENSP00000448916.1:p.Phe661Ile
ENST00000551492.5:c.2086T>A	ENSP00000450392.1:p.Phe696Ile
ENST00000551634.5:c.1993T>A	ENSP00000448373.1:p.Phe665Ile
NM_001164749.1:c.2071T>A	NP_001158221.1:p.Phe691Ile
NM_001165893.1:c.1981T>A	NP_001159365.1:p.Phe661Ile
NM_022123.2:c.1975T>A	NP_071406.1:p.Phe659Ile
NM_173159.2:c.2032T>A	NP_775182.1:p.Phe678Ile
XM_005267991.2:c.2092T>A	XP_005268048.1:p.Phe698Ile
XM_005267992.2:c.2086T>A	XP_005268049.1:p.Phe696Ile
XM_005267993.2:c.2032T>A	XP_005268050.1:p.Phe678Ile
XM_011537067.1:c.2122T>A	XP_011535369.1:p.Phe708Ile
XM_011537068.1:c.2113T>A	XP_011535370.1:p.Phe705Ile
XM_011537069.1:c.2083T>A	XP_011535371.1:p.Phe695Ile
XM_011537070.1:c.2026T>A	XP_011535372.1:p.Phe676Ile
XM_011537071.1:c.1993T>A	XP_011535373.1:p.Phe665Ile
XM_011537072.1:c.1972T>A	XP_011535374.1:p.Phe658Ile
XM_011537073.1:c.1765T>A	XP_011535375.1:p.Phe589Ile
XM_011537074.1:c.1765T>A	XP_011535376.1:p.Phe589Ile
XM_005267991.3:c.2179T>A	XP_005268048.2:p.Phe727Ile
XM_005267992.3:c.2173T>A	XP_005268049.2:p.Phe725Ile
XM_011537067.2:c.2122T>A	XP_011535369.1:p.Phe708Ile
XM_011537069.2:c.2170T>A	XP_011535371.2:p.Phe724Ile
XM_011537070.2:c.2026T>A	XP_011535372.1:p.Phe676Ile
XM_011537071.2:c.2080T>A	XP_011535373.2:p.Phe694Ile
XM_011537072.2:c.1972T>A	XP_011535374.1:p.Phe658Ile
XM_017021582.1:c.2230T>A	XP_016877071.1:p.Phe744Ile
XM_017021583.1:c.2221T>A	XP_016877072.1:p.Phe741Ile
XM_017021584.1:c.2140T>A	XP_016877073.1:p.Phe714Ile
XM_017021585.1:c.2089T>A	XP_016877074.1:p.Phe697Ile
XM_017021586.1:c.1765T>A	XP_016877075.1:p.Phe589Ile
XM_017021587.1:c.1765T>A	XP_016877076.1:p.Phe589Ile
XM_017021588.1:c.1765T>A	XP_016877077.1:p.Phe589Ile
NM_001164749.2:c.2071T>A MANE Select	NP_001158221.1:p.Phe691Ile
NM_001165893.2:c.1981T>A	NP_001159365.1:p.Phe661Ile
NM_022123.3:c.1975T>A	NP_071406.1:p.Phe659Ile
NM_173159.3:c.2032T>A	NP_775182.1:p.Phe678Ile
NM_001394988.1:c.2026T>A	NP_001381917.1:p.Phe676Ile
NM_001394989.1:c.1972T>A	NP_001381918.1:p.Phe658Ile